Related gene-specific medical variations for Gene (Select 6955) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302894	NM_001001912.3(OR4E2):c.125A>G (p.Asn42Ser)	OR4E2, TRA (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302893	NM_001001912.3(OR4E2):c.367T>C (p.Tyr123His)	OR4E2, TRA (Y123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302892	NM_001001912.3(OR4E2):c.880G>C (p.Val294Leu)	OR4E2, TRA (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302891	NM_001001912.3(OR4E2):c.467C>T (p.Ser156Leu)	OR4E2, TRA (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302391	NM_001005466.2(OR10G2):c.211C>T (p.Leu71Phe)	OR10G2, TRA (L71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302390	NM_001005466.2(OR10G2):c.661C>G (p.Leu221Val)	OR10G2, TRA (L221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205553	NM_001001912.3(OR4E2):c.800T>C (p.Ile267Thr)	OR4E2, TRA (I267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205552	NM_001001912.3(OR4E2):c.670T>C (p.Ser224Pro)	OR4E2, TRA (S224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205551	NM_001001912.3(OR4E2):c.248A>G (p.Glu83Gly)	OR4E2, TRA (E83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204506	NM_001005466.2(OR10G2):c.891C>A (p.Asn297Lys)	OR10G2, TRA (N297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204505	NM_001005466.2(OR10G2):c.755T>C (p.Val252Ala)	OR10G2, TRA (V252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204504	NM_001005466.2(OR10G2):c.74C>A (p.Pro25Gln)	OR10G2, TRA (P25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204503	NM_001005466.2(OR10G2):c.698T>G (p.Ile233Arg)	OR10G2, TRA (I233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204502	NM_001005466.2(OR10G2):c.586G>T (p.Asp196Tyr)	OR10G2, TRA (D196Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204501	NM_001005466.2(OR10G2):c.508C>T (p.Arg170Cys)	OR10G2, TRA (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204500	NM_001005466.2(OR10G2):c.466G>A (p.Ala156Thr)	OR10G2, TRA (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204499	NM_001005466.2(OR10G2):c.337G>A (p.Gly113Ser)	OR10G2, TRA (G113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204498	NM_001005466.2(OR10G2):c.251C>T (p.Pro84Leu)	TRA, OR10G2 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204497	NM_001005466.2(OR10G2):c.131T>C (p.Leu44Pro)	OR10G2, TRA (L44P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644073	NM_001317107.2(OR4E1):c.657G>A (p.Val219=)	OR4E1, TRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608596	NM_001005466.2(OR10G2):c.274C>T (p.Pro92Ser)	OR10G2, TRA (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606175	NM_001005466.2(OR10G2):c.109A>G (p.Ile37Val)	OR10G2, TRA (I37V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592224	NM_001001912.3(OR4E2):c.79T>A (p.Phe27Ile)	OR4E2, TRA (F27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560044	NM_001001912.3(OR4E2):c.929A>G (p.Lys310Arg)	OR4E2, TRA (K310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534966	NM_001005466.2(OR10G2):c.667T>C (p.Tyr223His)	OR10G2, TRA (Y223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527898	NM_001001912.3(OR4E2):c.62G>T (p.Arg21Leu)	OR4E2, TRA (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509524	NM_001001912.3(OR4E2):c.850C>G (p.Pro284Ala)	OR4E2, TRA (P284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498232	NC_000014.9:g.22007908A>C	TRA, TRAV19	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498231	NC_000014.9:g.22007907C>T	TRA, TRAV19	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2495104	NM_001001912.3(OR4E2):c.350T>C (p.Ile117Thr)	OR4E2, TRA (I117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473746	NM_001005466.2(OR10G2):c.79C>A (p.Leu27Ile)	OR10G2, TRA (L27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468559	NM_001001912.3(OR4E2):c.64G>A (p.Val22Met)	OR4E2, TRA (V22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466900	NM_001005466.2(OR10G2):c.44A>C (p.Asp15Ala)	OR10G2, TRA (D15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404077	NM_001001912.3(OR4E2):c.838C>G (p.Pro280Ala)	OR4E2, TRA (P280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387796	NM_001005466.2(OR10G2):c.722G>A (p.Arg241Gln)	OR10G2, TRA (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386894	NM_001001912.3(OR4E2):c.61C>T (p.Arg21Trp)	OR4E2, TRA (R21W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377686	NM_001005466.2(OR10G2):c.245C>T (p.Thr82Ile)	OR10G2, TRA (T82I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372982	NM_001001912.3(OR4E2):c.190A>G (p.Ser64Gly)	OR4E2, TRA (S64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367382	NM_001001912.3(OR4E2):c.698G>A (p.Arg233His)	OR4E2, TRA (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359499	NM_001005466.2(OR10G2):c.15A>T (p.Lys5Asn)	OR10G2, TRA (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351825	NM_001001912.3(OR4E2):c.677G>A (p.Arg226Gln)	OR4E2, TRA (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350652	NM_001001912.3(OR4E2):c.709C>G (p.Leu237Val)	TRA, OR4E2 (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349397	NM_001005466.2(OR10G2):c.668A>G (p.Tyr223Cys)	OR10G2, TRA (Y223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338106	NM_001005466.2(OR10G2):c.184C>T (p.Arg62Cys)	OR10G2, TRA (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330851	NM_001005466.2(OR10G2):c.911T>C (p.Leu304Pro)	OR10G2, TRA (L304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321765	NM_001001912.3(OR4E2):c.773A>G (p.Tyr258Cys)	OR4E2, TRA (Y258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321454	NM_001005466.2(OR10G2):c.290T>C (p.Ile97Thr)	OR10G2, TRA (I97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318252	NM_001001912.3(OR4E2):c.913C>A (p.Gln305Lys)	OR4E2, TRA (Q305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316582	NM_001005466.2(OR10G2):c.41C>G (p.Thr14Arg)	OR10G2, TRA (T14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308459	NM_001001912.3(OR4E2):c.626C>T (p.Ser209Phe)	OR4E2, TRA (S209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299444	NM_001005466.2(OR10G2):c.469G>A (p.Gly157Ser)	OR10G2, TRA (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297449	NM_001005466.2(OR10G2):c.23C>T (p.Ser8Leu)	OR10G2, TRA (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272862	NM_001001912.3(OR4E2):c.656T>C (p.Met219Thr)	OR4E2, TRA (M219T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257536	NM_001001912.3(OR4E2):c.401A>G (p.Asn134Ser)	OR4E2, TRA (N134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255777	NM_001001912.3(OR4E2):c.37G>C (p.Val13Leu)	OR4E2, TRA (V13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241084	NM_001005466.2(OR10G2):c.577G>T (p.Ala193Ser)	OR10G2, TRA (A193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218097	NM_001001912.3(OR4E2):c.191G>C (p.Ser64Thr)	OR4E2, TRA (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212508	NM_001005466.2(OR10G2):c.34G>A (p.Val12Met)	OR10G2, TRA (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208948	NM_001001912.3(OR4E2):c.154A>G (p.Thr52Ala)	OR4E2, TRA (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208462	NM_001001912.3(OR4E2):c.926C>T (p.Thr309Met)	OR4E2, TRA (T309M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207461	NM_001005466.2(OR10G2):c.119T>A (p.Ile40Asn)	OR10G2, TRA (I40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157302	Single allele	TRA	Deletion	Large for gestational age	Gnot provided
Select item 157301	Single allele	TRA	Deletion	Normal pregnancy	Gnot provided
Select item 64370	NC_000014.9:g.22550664G>A	LOC130055307, TRA +1 more	Single nucleotide variant	TCR-alpha-beta-positive T-cell deficiency	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 64